Results 221 to 230 of about 7,998,845 (308)

Ofatumumab Therapy and Long‐Term Seizure Outcomes of Patients With Relapsing Anti‐NMDA Receptor Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective There is a lack of studies on seizure outcomes associated with ofatumumab therapy in patients for relapsing anti‐N‐methyl‐D‐aspartate (NMDA) receptor encephalitis. We aimed to evaluate long‐term seizure outcomes of ofatumumab therapy for relapsing anti‐NMDA receptor encephalitis.
Jian Wang, Mengjiao Li, Ping Kong
wiley   +1 more source

Synchronous retroperitoneal and mesenteric dedifferentiated liposarcoma: case report of a challenging rare disease and literature review. [PDF]

J Surg Case Rep
Giambusso M, Di Mattia P, Graziano GMP, Licciardello A, Centonze DC.   +4 more
europepmc   +1 more source

Copine‐4 Paraneoplastic Autoimmune Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We characterize copine‐4 (CPNE4)‐IgG and report clinical associations. Among 844 samples with unclassified neural IgGs identified by mouse‐brain indirect immunofluorescence assay over 2 years, 5 samples (serum, 3; CSF, 2) from 3 patients produced a distinctive cerebrum‐restricted synaptic pattern.
Mimi S. Fang, Amy Ml Quek, Clement Yong, Amir Adeli, Gabrielle N. Conway, Connie E. Lesnick, Diana Anissian, Divyanshu Dubey, John R. Mills, Sean J. Pittock, Anastasia Zekeridou, Michael Gilligan, Andrew McKeon   +12 more
wiley   +1 more source

Diffusion Basis Spectrum Imaging of Tissue Microstructure and Early Treatment in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Conventional MRI cannot resolve the coexisting pathological processes within multiple sclerosis tissue. Diffusion Basis Spectrum Imaging decomposes the diffusion signal into fiber, cell, and hindered ratios indexing axonal integrity, cellularity, and extracellular space, respectively.
Apisit Kaewsanit, Aime Luna, Bradley Judge, Nicole Shelley, Karl Friedrichsen, Jayashree Rajamanickam, Zhude Tu, Yong Wang, Tammie L. S. Benzinger, Qing Wang, Matthew R. Brier   +10 more
wiley   +1 more source

Comprehensive analysis of disease spectrum and mortality in Sanjad-Sakati syndrome: an international rare disease registry study.

J Clin Endocrinol Metab
Almutair A, Karas K, Al Subaihin A, Al Dibasi O, Melha M, Al-Ghamdi H, Yadav B, Al Ghanam S, Alanazi A, AlSaedi A, Althobaiti E, Al Senani A, Al Azkawi H, Al Enezi A, Bakkar A, Ali A, Al Juraibah F, Alyaarubi S, Al Sagheir A, Högler W.   +19 more
europepmc   +1 more source

Detecting pathogenic structural variation in families with undiagnosed rare disease in a national genome project. [PDF]

Eur J Hum Genet
Dutta P, Pagnamenta AT, Robert C, McGuigan AEF, Ross A, Tobias ES, McGowan R, Ansari M, Baty D, Berg J, Bradley T, Cerqueira V, Diamond A, Halachev M, Lampe A, Meynert A, Newman C, Thomson M, Trivedi U, Williams N, Yu J, Santoyo-Lopez J, Miedzybrodzka Z, Taylor JC, Aitman TJ.   +24 more
europepmc   +1 more source

Glucagon‐Like Peptide‐1 Receptor Agonists in Multiple Sclerosis: A Topical Narrative Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT The glucagon‐like peptide‐1 (GLP‐1) receptor agonists (RAs) are a relatively new class of drugs that were initially approved by the US Food and Drug Administration to improve glycemic control in patients with type 2 diabetes mellitus and, subsequently, weight reduction in patients with obesity.
Audrey Y. Chang, Farrah J. Mateen
wiley   +1 more source

Decentralized rare disease studies in Germany: first results and hurdles of secondary use of patient data. [PDF]

BMC Med Inform Decis Mak
Zoch M, Gierschner C, Weidner J, Sedlmayr M, Müller G, Choukair D, Hoffmann GF, Toepfner N, Berner R, Prasser F, Schepers J, Hebestreit H.   +11 more
europepmc   +1 more source

Investigation of Complement Activation and Cytokine Signatures in AQP4+ NMOSD, MOGAD, and MS

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Aquaporin‐4‐IgG seropositive neuromyelitis optica spectrum disorder (AQP4+ NMOSD), myelin oligodendrocyte glycoprotein antibody‐associated disease (MOGAD), and multiple sclerosis (MS) are pathophysiologically distinct neuroinflammatory disorders. Complement activation is a major mechanism of injury in AQP4+ NMOSD, whereas its role in
Angeliki G. Filippatou, Susana Dominguez‐Penuela, David Acero‐Garces, Georgios Gakis, Matthew D. Smith, Yasmin Resto, Maria Reyes‐Mantilla, Haiwen Chen, Isabella Hernandez, Yana Said, Andrea Salazar‐Camelo, Christina Huynh, Alessia Tassoni, Ted Yednock, Rick Artis, Yaisa Andrews‐Zwilling, Scott D. Newsome, Shiv Saidha, Pavan Bhargava, Ellen M. Mowry, Kathryn C. Fitzgerald, Peter A. Calabresi, Carlos A. Pardo, Elias S. Sotirchos   +23 more
wiley   +1 more source

Integrative Literature Review on the Lived Experiences of Parents of Children with a Rare Disease. [PDF]

Healthcare (Basel)
Guillari A, Ballfusha K, Palazzo C, Martino MD, Giordano V.   +4 more
europepmc   +1 more source